Activity
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| Childhood interstitial lung disease v0.5 | PSMB8 | Achchuthan Shanmugasundram commented on gene: PSMB8: PSMB8 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | PSMB8 | Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: proteasome-associated autoinflammatory syndrome 1, MONDO:0054698, Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | PSMB8 |
Achchuthan Shanmugasundram gene: PSMB8 was added gene: PSMB8 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMB8 were set to proteasome-associated autoinflammatory syndrome 1, MONDO:0054698; Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 |
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